Laterality disorders and isomerismGene: SPAG1
On CGGL Royal Brompton panel. Good but limited literature evidence (single ref)
SPAG1 encodes a protein involved in the cytoplasmic assembly of ciliary dynein arms. Pathogenic variants are a cause of autosomal recessive PCD, and loss of function is the main disease mechanism (Knowles et al 2013 Am J Hum Genet 93(4):711-720).
Created: 25 Nov 2019, 11:22 p.m. | Last Modified: 25 Nov 2019, 11:22 p.m.
Panel Version: 0.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM 615505 Ciliary dyskinesia, primary, 28
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SPAG1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.
Phenotypes for gene: SPAG1 were changed from to Ciliary dyskinesia, primary, 28, 615505
Publications for gene: SPAG1 were set to
Mode of inheritance for gene: SPAG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to SPAG1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SPAG1 was added gene: SPAG1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: SPAG1 was set to